rare diseases – Page 4 – Communicable Diseases Research

Depression and Anxiety in Patients with Rare Diseases during the COVID-19 Pandemic

Article

Published on 2021-03-212022-10-29
Journal: International Journal of Environmental Research an [Category] COVID-19, SARS,

COVID-19 infection and cardiac angiosarcoma: a dangerous combination—a case report

Case Report

Published on 2021-02-242022-10-31
Journal: The Cardiothoracic Surgeon [Category] COVID-19,

SARS‐CoV ‐2 pandemic in the Brazilian community of rare diseases: A patient reported survey

Research Article

Published on 2021-01-202023-06-17
Journal: American journal of medical genetics. Part C, Semi [Category] MERS, SARS,

[키워드] Brazil coronavirus COVID‐19 genetic disorders rare diseases
[DOI] 10.1002/ajmg.c.31883 PMC 바로가기 [Article Type] Research Article

The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys

Letter to the Editor

Published on 2020-12-032022-10-29
Journal: Orphanet Journal of Rare Diseases [Category] COVID-19, MERS, SARS,

A new domestic cat genome assembly based on long sequence reads empowers feline genomic medicine and identifies a novel gene for dwarfism

긴 서열 판독을 기반으로 한 새로운 국내 고양이 게놈 어셈블리는 고양이 게놈 의학에 힘을 실어주고 왜소증에 대한 새로운 유전자를 식별합니다

Research Article

Published on 2020-10-222022-09-06
Journal: PLoS Genetics [Category] Communicable Disease,

[키워드] aligned allele analyses Analysis Author Biology Biosynthesis Cancer candidate cats chromosome complex correlated Deleterious disease distribution duplication dwarfism expansion facilitate FBXW7 Felis framework Genome genome assembly genomic genomic variation Glucose Health help Households human gene Human genetics humans identify Impact IMPROVE information involved landscape lead Lineage lymphoma Mutation mutations nucleotide patients phenotype Phenotypes predicted rare diseases reference genome resource screened sequence sequence variation significantly Single nucleotide variant single nucleotide variants SNV SNVs Structural variant structural variants susceptibility SVs Tumor tumor suppressor UGDH USA utility variant Variation whole genome sequence
[DOI] 10.1371/journal.pgen.1008926 PMC 바로가기 [Article Type] Research Article

European expert network on rare communicable diseases and other rare diseases linked to mobility and globalisation focused on health care provision (EURaDMoG): a feasibility study

Article

Published on 2020-10-162023-08-30
Journal: Orphanet Journal of Rare Diseases [Category] E형 간염,

[키워드] communicable diseases Globalisation imported diseases Mobility rare diseases Rare infections
[DOI] 10.1186/s13023-020-01534-1 PMC 바로가기

Angiogenesis, hereditary hemorrhagic telangiectasia and COVID-19

혈관신생, 유전성 출혈성 모세혈관확장증 및 COVID-19

Case Reports

Published on 2020-10-142022-09-10
Journal: Angiogenesis [Category] 변종, 임상,

[키워드] acute respiratory syndrome acute respiratory syndrome coronavirus-2 ACVRL1 Adult patients Angiogenesis characterized Clinical course Clinical data coronavirus disease Coronavirus disease 2019 Coronavirus disease 2019 (COVID-19) COVID-19 COVID-19 patient COVID-19 pneumonia discharged disease endothelial damage endothelial injury Epistaxis Evidence Hemorrhagic Hereditary Hereditary hemorrhagic telangiectasia investigator mechanical ventilation multicenter open pathogenic pathogenic variant pathologic Patient patients Pneumonia Prevalence provoke rare disease rare diseases registry respiratory SARS-CoV-2 Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) telangiectasia Vascular worsening
[DOI] 10.1007/s10456-020-09755-5 PMC 바로가기 [Article Type] Case Reports

Angiogenesis, hereditary hemorrhagic telangiectasia and COVID-19

Case Reports

Published on 2020-10-142022-10-27
Journal: Angiogenesis [Category] COVID-19, Fulltext, MERS,

Practical Considerations for the Management of Cushing’s Disease and COVID-19: A Case Report

Endocrinology

Published on 2020-09-112022-10-31
Journal: Frontiers in Endocrinology [Category] COVID-19, MERS, SARS,

Providing high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic

Position Statement

Published on 2020-08-312022-10-29
Journal: Orphanet Journal of Rare Diseases [Category] COVID-19, MERS,